Canonical Allele Identifier: CA381169085

Gene: PYGM

Linked Data

• gnomAD v4: 11-64751400-T-A
• MyVariant Identifiers: chr11:g.64518872T>A (hg19) ; chr11:g.64751400T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64751400T>A , CM000673.2:g.64751400T>A	GRCh38
NC_000011.9:g.64518872T>A , CM000673.1:g.64518872T>A	GRCh37
NC_000011.8:g.64275448T>A	NCBI36
NG_013018.1:g.14316A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000164139.4:c.1894A>T MANE Select	ENSP00000164139.3:p.Asn632Tyr
ENST00000164139.3:c.1894A>T	ENSP00000164139.3:p.Asn632Tyr
ENST00000377432.7:c.1630A>T	ENSP00000366650.3:p.Asn544Tyr
ENST00000462303.1:n.218A>T
NM_001164716.1:c.1630A>T	NP_001158188.1:p.Asn544Tyr
NM_005609.2:c.1894A>T	NP_005600.1:p.Asn632Tyr
NM_005609.3:c.1894A>T	NP_005600.1:p.Asn632Tyr
NM_005609.4:c.1894A>T MANE Select	NP_005600.1:p.Asn632Tyr